Property Summary

NCBI Gene PubMed Count 15
Grant Count 106
R01 Count 49
Funding $24,582,766.22
PubMed Score 76.76
PubTator Score 15.47

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
Duchenne muscular dystrophy -1.020 0.000
acute quadriplegic myopathy -1.122 0.006
diabetes mellitus -1.300 0.015

Synonym

Accession Q14324 A1L4G9 Fast MyBP-C
Symbols MYBPC
MYBPCF

Gene

PDB

2E7C   2EDK   2EDN  

Gene RIF (7)

PMID Text
20740642 the mean methylation level of CpGs was significantly higher in MYBPC3 than MYBPC2.
20605413 The patients with a frameshift deletion mutation of MyBPC may develop LV systolic dysfunction and suffer from cardiovascular events through mid-life and beyond.
19913121 Observational study of gene-disease association. (HuGE Navigator)
18817784 The distribution of MyBP-C in the A-bands of cardiac and skeletal muscles and compare this to the A-band structure in cardiac muscle of MyBP-C-deficient mice, was investigated.
18201573 Role and quaternary structure of MyBPC in skeletal muscle.
17876814 the CD-loop is a natively unfolded sequence with a likely coupling between folding and ligand binding.
12386147 Identification of interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations.

AA Sequence

MPEAKPAAKKAPKGKDAPKGAPKEAPPKEAPAEAPKEAPPEDQSPTAEEPTGVFLKKPDSVSVETGKDAV      1 - 70
VVAKVNGKELPDKPTIKWFKGKWLELGSKSGARFSFKESHNSASNVYTVELHIGKVVLGDRGYYRLEVKA     71 - 140
KDTCDSCGFNIDVEAPRQDASGQSLESFKRTSEKKSDTAGELDFSGLLKKREVVEEEKKKKKKDDDDLGI    141 - 210
PPEIWELLKGAKKSEYEKIAFQYGITDLRGMLKRLKKAKVEVKKSAAFTKKLDPAYQVDRGNKIKLMVEI    211 - 280
SDPDLTLKWFKNGQEIKPSSKYVFENVGKKRILTINKCTLADDAAYEVAVKDEKCFTELFVKEPPVLIVT    281 - 350
PLEDQQVFVGDRVEMAVEVSEEGAQVMWMKDGVELTREDSFKARYRFKKDGKRHILIFSDVVQEDRGRYQ    351 - 420
VITNGGQCEAELIVEEKQLEVLQDIADLTVKASEQAVFKCEVSDEKVTGKWYKNGVEVRPSKRITISHVG    421 - 490
RFHKLVIDDVRPEDEGDYTFVPDGYALSLSAKLNFLEIKVEYVPKQEPPKIHLDCSGKTSENAIVVVAGN    491 - 560
KLRLDVSITGEPPPVATWLKGDEVFTTTEGRTRIEKRVDCSSFVIESAQREDEGRYTIKVTNPVGEDVAS    561 - 630
IFLQVVDVPDPPEAVRITSVGEDWAILVWEPPMYDGGKPVTGYLVERKKKGSQRWMKLNFEVFTETTYES    631 - 700
TKMIEGILYEMRVFAVNAIGVSQPSMNTKPFMPIAPTSEPLHLIVEDVTDTTTTLKWRPPNRIGAGGIDG    701 - 770
YLVEYCLEGSEEWVPANTEPVERCGFTVKNLPTGARILFRVVGVNIAGRSEPATLAQPVTIREIAEPPKI    771 - 840
RLPRHLRQTYIRKVGEQLNLVVPFQGKPRPQVVWTKGGAPLDTSRVHVRTSDFDTVFFVRQAARSDSGEY    841 - 910
ELSVQIENMKDTATIRIRVVEKAGPPINVMVKEVWGTNALVEWQAPKDDGNSEIMGYFVQKADKKTMEWF    911 - 980
NVYERNRHTSCTVSDLIVGNEYYFRVYTENICGLSDSPGVSKNTARILKTGITFKPFEYKEHDFRMAPKF    981 - 1050
LTPLIDRVVVAGYSAALNCAVRGHPKPKVVWMKNKMEIREDPKFLITNYQGVLTLNIRRPSPFDAGTYTC   1051 - 1120
RAVNELGEALAECKLEVRVPQ                                                    1121 - 1141
//

Text Mined References (17)

PMID Year Title
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
20740642 2011 Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20605413 2010 A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
18817784 2008 Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle.
18201573 2008 Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle.
17876814 2008 Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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